Canonical Allele Identifier: CA229583

Gene: PAH

Linked Data

• ClinVar Variation Id: 102702
• ClinVar RCV Id: RCV000088950 ; RCV000993615
• dbSNP Id: rs199475645
• MyVariant Identifiers: chr12:g.103260385G>T (hg19) ; chr12:g.102866607G>T (hg38)
• ERepo: CA229583/MONDO:0009861/006

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102866607G>T , CM000674.2:g.102866607G>T	GRCh38
NC_000012.11:g.103260385G>T , CM000674.1:g.103260385G>T	GRCh37
NC_000012.10:g.101784515G>T	NCBI36
NG_008690.1:g.55996C>A
NG_008690.2:g.96804C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.498C>A MANE Select	ENSP00000448059.1:p.Tyr166Ter
ENST00000307000.7:c.483C>A	ENSP00000303500.2:p.Tyr161Ter
ENST00000549111.5:n.594C>A
ENST00000551988.5:n.530+10855C>A
ENST00000553106.5:c.498C>A	ENSP00000448059.1:p.Tyr166Ter
NM_000277.1:c.498C>A	NP_000268.1:p.Tyr166Ter
XM_011538422.1:c.498C>A	XP_011536724.1:p.Tyr166Ter
NM_000277.2:c.498C>A	NP_000268.1:p.Tyr166Ter
NM_001354304.1:c.498C>A	NP_001341233.1:p.Tyr166Ter
XM_017019370.2:c.498C>A	XP_016874859.1:p.Tyr166Ter
NM_000277.3:c.498C>A MANE Select	NP_000268.1:p.Tyr166Ter
NM_001354304.2:c.498C>A	NP_001341233.1:p.Tyr166Ter